Segregation of the N301T mutation in the family of the index patient with mevalonate kinase deficiency

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Bibliographic Details
Main Authors: Göbel-Schreiner, Barbara (Author) , Schreiner, R. (Author) , Hoffmann, Georg F. (Author) , Gibson, K. M. (Author)
Format: Article (Journal)
Language:English
Published: March 1995
In: Journal of inherited metabolic disease
Year: 1995, Volume: 18, Issue: 2, Pages: 197-200
ISSN:1573-2665
DOI:10.1007/BF00711765
Online Access:Verlag, lizenzpflichtig, Volltext: https://doi.org/10.1007/BF00711765
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Author Notes:B. Goebel-Schreiner, R. Schreiner, G.F. Hoffmann, K.M. Gibson
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Item Description:Gesehen am 28.10.2025
Physical Description:Online Resource
ISSN:1573-2665
DOI:10.1007/BF00711765